The Lived Experiences of Family Members Caring for Pediatric Patients With Extremely Rare Congenital Heart Conditions

Extremely rare congenital heart conditions may differ significantly from common congenital heart conditions in terms of medical management, treatment demands, outcomes, and quality of life, creating unique challenges for parents and families of affected children. Because these conditions are so uncommon, there may be limited information available for parents to understand what to expect. This study aimed to address this gap by surveying caregivers of children with these conditions.

A 21-item survey was distributed to online support groups for parents of children with rare congenital heart diseases. The survey aimed to collect caregiver-reported, descriptive data on the child's quality of life, medical care experience, and psychological, emotional, and physical functioning, as well as the caregivers' feelings. The results were analyzed and presented in both graphical and numerical formats to provide a summarized report that reflected the experiences of these families.

A total of 448 responses were received, reporting on 23 different extremely rare congenital heart conditions. Three conditions had 50 or more responses and form the main basis of this report: total anomalous pulmonary venous return (TAPVR, N = 90), truncus arteriosus (TA, N = 69), and single-ventricle defects (SVD, N = 58). Children with TAPVR had the highest percentage of independent functioning (60, 67%) and the lowest percentage of developmental delay or physical symptoms (32, 35.8%). Corresponding values for TA were 65.2% (45) and 29% (20), and for SVD were 48.3% (28) and 14.6% (8). Moderate to severe activity restriction was most frequently reported in the SVD group (21, 36.2%), followed by TA (15, 21.7%), and TAPVR (9, 9.9%). Caregivers in all three groups reported distressing emotions at over 70%, with worry and anxiety cited at least 85% of the time. Respondents for TA had the lowest rate of healthcare access difficulty (6, 8.7%), followed by TAPVR (13, 14.5%) and SVD (13, 22.4%). Nearly half of all respondents reported economic hardship, with TAPVR reporting the highest burden (48, 53%), and TA and SVD having nearly identical rates of 43.5% (30) and 43.1% (25), respectively.

The survey results highlight the unpredictability that the future may hold for parents of children with these rare conditions. Thankfully, the results suggest that with appropriate medical interventions and support, many of these children can become fully functional without facing a significant healthcare burden. For those with less favorable outcomes, the survey results help shed light on the potential challenges parents may encounter. Early education is vital in preparing parents for the road ahead and enabling them to provide the best support for their child.